Hypertrophic cardiomyopathy – Family screening

Hypertrophic cardiomyopathy – Family screening

Hypertrophic cardiomyopathy is a genetic disease characterized by progressive thickening of heart muscle. Fifty percent of first degree relatives (father, mother, brother, sister, son, daughter) are likely to have the same disease. Hence the importance of family screening in individuals with hypertrophic cardiomyopathy. Before family screening, one should also understand the implications in case of potential confirmation of the disease. It may mean difficulties in getting jobs, life insurance, marital alliance etc, leave alone the stress of being diagnosed to have an important form of heart disease which has the potential to be transmitted to offspring. On the other hand, there is the potential risk of having an undetected disease which has potential treatment options. After weighing these options, if the relatives opt for family screening, it should start with an initial medical examination followed by ECG (electrocardiogram) and echocardiogram (ultrasound imaging of the heart). If genetic studies are available, looking for genetic mutations known to cause hypertrophic cardiomyopathy is also possible. In this case, mutations may be detected even in those who do not have the disease manifestation at present. This is because the disease manifests at variable periods of life in different individuals and different families. If any close relative is planning to engage in competitive sports activities, it is ideal that they have full screening prior to participation as hypertrophic cardiomyopathy is the commonest cause for sudden death in young athletes. While going for screening by methods other than genetic testing, it is worth remembering that negative results do not rule out the possibility of future manifestation of the disease as the onset may be delayed. This is especially true if the initial screening is done before adulthood. There are also certain genetic variants, the manifestation of which can be quite late in adulthood.